MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000304519
MT speed 0 s - this script 2.799904 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
C8orf74	polymorphism_automatic	1.56985535681997e-13	simple_aae		affected		I222V	single base exchange	rs57041981		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999843 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:10557760A>GN/A show variant in all transcripts IGV

HGNC symbol

C8orf74

Ensembl transcript ID

ENST00000304519

Genbank transcript ID

NM_001040032

UniProt peptide

Q6P047

alteration type

single base exchange

alteration region

CDS

DNA changes

c.664A>G
cDNA.693A>G
g.27614A>G

AA changes

I222V Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

222

frameshift

known variant

Reference ID: rs57041981

database	homozygous (G/G)	heterozygous	allele carriers
1000G	368	505	873
ExAC	2171	5907	8078

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.7	0
	-0.489	0.001
(flanking)	2.471	0.049

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	27608	wt: 0.39 / mu: 0.97	wt: TGGAGAGCCTCATCT mu: TGGAGAGCCTCGTCT	GAGA\|gcct
Acc gained	27621	0.36	mu: GTTGGAGAGCCTCGTCTGCCAGGCAGTCCACACCCAGATGG	gcca\|GGCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

222

mutated

all conserved

222

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000010179

207

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000021961

222

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000075206

220

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

885 / 885

position (AA) of stopcodon in wt / mu AA sequence

295 / 295

position of stopcodon in wt / mu cDNA

914 / 914

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

30 / 30

chromosome

strand

last intron/exon boundary

678

theoretical NMD boundary in CDS

598

length of CDS

885

coding sequence (CDS) position

664

cDNA position
(for ins/del: last normal base / first normal base)

693

gDNA position
(for ins/del: last normal base / first normal base)

27614

chromosomal position
(for ins/del: last normal base / first normal base)

10557760

original gDNA sequence snippet

TCCAGGAGTTGGAGAGCCTCATCTGCCAGGCAGTCCACACC

altered gDNA sequence snippet

TCCAGGAGTTGGAGAGCCTCGTCTGCCAGGCAGTCCACACC

original cDNA sequence snippet

GACAGGAGTTGGAGAGCCTCATCTGCCAGGCAGTCCACACC

altered cDNA sequence snippet

GACAGGAGTTGGAGAGCCTCGTCTGCCAGGCAGTCCACACC

wildtype AA sequence

MALLTPQGVK EVFQLQRPQG RERLRRLLNW EEFDEQRDSR RSILLDTLYE SIIFAVGKGF
PWVEVAQVVK FTEELLRETK GCSITEAVTI LGNKLRDYRG HFNTTHLLAL CDYFHHTFIR
HYKLYQYVLG QDQQVDLTVA HLEVCMPPHP LPLAEGMDRD LWIHEQQVAT LTEAEAQKRA
DVLLLKEALR LERENSLQKA FAAAAPAQPG QVLERQELES LICQAVHTQM ELLQELLQRQ
IQNTFAILDL KLQKKTLNLN APTPIPPPIT SHAGQEEALK PQRASKGKKA KARK*

mutated AA sequence

MALLTPQGVK EVFQLQRPQG RERLRRLLNW EEFDEQRDSR RSILLDTLYE SIIFAVGKGF
PWVEVAQVVK FTEELLRETK GCSITEAVTI LGNKLRDYRG HFNTTHLLAL CDYFHHTFIR
HYKLYQYVLG QDQQVDLTVA HLEVCMPPHP LPLAEGMDRD LWIHEQQVAT LTEAEAQKRA
DVLLLKEALR LERENSLQKA FAAAAPAQPG QVLERQELES LVCQAVHTQM ELLQELLQRQ
IQNTFAILDL KLQKKTLNLN APTPIPPPIT SHAGQEEALK PQRASKGKKA KARK*

speed

0.80 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems